Canonical Allele Identifier: CA055807

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38529007C>T , CM000681.2:g.38529007C>T	GRCh38
NC_000019.9:g.39019647C>T , CM000681.1:g.39019647C>T	GRCh37
NC_000019.8:g.43711487C>T	NCBI36
NG_008866.1:g.100308C>T , LRG_766:g.100308C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.11091C>T MANE Select	NP_000531.2:p.Pro3697=
ENST00000359596.8:c.11091C>T MANE Select	ENSP00000352608.2:p.Pro3697=
NM_000540.2:c.11091C>T , LRG_766t1:c.11091C>T	NP_000531.2:p.Pro3697=
NM_001042723.1:c.11076C>T	NP_001036188.1:p.Pro3692=
NM_001042723.2:c.11076C>T	NP_001036188.1:p.Pro3692=
ENST00000355481.8:c.11076C>T	ENSP00000347667.3:p.Pro3692=
ENST00000359596.7:c.11091C>T	ENSP00000352608.2:p.Pro3697=
ENST00000360985.7:c.11073C>T	ENSP00000354254.4:p.Pro3691=
ENST00000594335.5:c.4478C>T
ENST00000599547.5:c.1898C>T
ENST00000599547.6:c.11030C>T	ENSP00000471601.2:n.11030C>T
ENST00000601514.5:c.372C>T	ENSP00000472497.1:p.Pro124=
XM_006723317.1:c.11091C>T	XP_006723380.1:p.Pro3697=
XM_006723317.2:c.11091C>T	XP_006723380.1:p.Pro3697=
XM_006723319.1:c.11076C>T	XP_006723382.1:p.Pro3692=
XM_006723319.2:c.11076C>T	XP_006723382.1:p.Pro3692=
XM_011527204.1:c.11088C>T	XP_011525506.1:p.Pro3696=
XM_011527205.1:c.11091C>T	XP_011525507.1:p.Pro3697=
XM_011527205.2:c.11091C>T	XP_011525507.1:p.Pro3697=